SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Disease: Sialuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE In three patients we find a known homozygous pathogenic mutation in the Homo sapiens solute carrier family 17 member 5 (SLC17A5), causing Salla disease. 31694657 2019
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Sequencing of SLC17A5 revealed compound heterozygous likely pathogenic variants, namely, a known missense (c.291G>A) variant and a novel truncating (c.819+1G>A) variant, confirming the diagnosis of Salla disease at age 3.5 years. 28662915 2017
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. 28187749 2017
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein. 21781115 2011
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria. 19557856 2009
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 Biomarker disease MGD The lysosomal sialic acid transporter sialin is required for normal CNS myelination. 20007460 2009
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Direct sequencing of SLC17A5 in the proband revealed homozygosity for the 115C --> T (R39C) sequence variant, the common cause of Salla disease in Finland. 16158439 2005
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 16170568 2005
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE The allelic autosomal recessive lysosomal storage disorders Salla disease and infantile free sialic acid storage disease (ISSD) result from mutations in SLC17A5. 15172001 2004
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Salla disease (SD) and infantile sialic acid storage disease (ISSD) are recessively inherited, neuro-degenerative disorders caused by mutations in the SLC17A5 gene. 12359136 2003
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE Mutations of the SLC17A5 gene, which encodes a protein called sialin, are the primary cause of both Salla disease and infantile sialic acid storage disease (ISSD), a clinically distinct severe disorder. 12121352 2002
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype. 10947946 2000
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 GeneticVariation disease BEFREE We found a homozygous SLC17A5 mutation (R39C) in five Finnish patients with Salla disease and six different SLC17A5 mutations in six ISSD patients of different ethnic origins. 10581036 1999
CUI: C0342853
Disease: Sialuria
Sialuria 		0.600 Biomarker disease CTD_human